Case 754 -- A 2.5 months old female with neurologic symptoms

Contributed by Aaron Berg, MD and Steven Dobrowolski, PhD

PRESENTATION

The patient is a 2.5 month old female who presented with weight loss, stridor, hypertonia, and abnormal visual tracking. She was the result of a full term pregnancy with no complications and unremarkable delivery. Of note, the neurological exam at that time was normal. She regained birth weight quickly but had weight gaining difficulties starting in the second month. There were additional developmental delays such as no social smile, no object tracking, nor engaging with environment. There was back arching noted while feeding.

Family history was significant for a maternal aunt with seizure disorder and a paternal aunt with Gaucher disease type I.